Pub Date : 2025-03-27eCollection Date: 2025-01-01DOI: 10.1177/11795476251329232
Omar Mahmud, Arshia Jahangir, Syed Muhammad Waqas, Noreen Nasir
The accurate diagnosis of pathologies with obscure presentations requires comprehensive clinical evaluation, epidemiological context, and consideration of the patient's clinical or hospital course. In this case report, we describe a 30-year-old female receiving antituberculosis therapy who developed multiple signs and symptoms that were unexplained by any single diagnosis, including multiple rashes with different features. The patient was determined to have drug induced lupus with concomitant HIV infection. Physicians should consider the possibility of co-existing disease processes when a single unifying diagnosis that reconciles all aspects of the patient's presentation cannot be identified.
{"title":"Drug-Induced Lupus in an HIV-Positive Patient Treated for Tuberculosis: A Case Report.","authors":"Omar Mahmud, Arshia Jahangir, Syed Muhammad Waqas, Noreen Nasir","doi":"10.1177/11795476251329232","DOIUrl":"10.1177/11795476251329232","url":null,"abstract":"<p><p>The accurate diagnosis of pathologies with obscure presentations requires comprehensive clinical evaluation, epidemiological context, and consideration of the patient's clinical or hospital course. In this case report, we describe a 30-year-old female receiving antituberculosis therapy who developed multiple signs and symptoms that were unexplained by any single diagnosis, including multiple rashes with different features. The patient was determined to have drug induced lupus with concomitant HIV infection. Physicians should consider the possibility of co-existing disease processes when a single unifying diagnosis that reconciles all aspects of the patient's presentation cannot be identified.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251329232"},"PeriodicalIF":0.8,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-24eCollection Date: 2025-01-01DOI: 10.1177/11795476251329986
Souhaila El Gazzane, Salahiddine Saghir, Mehdi Bahous, Mohamed Sellouti, Anass Ayad, Rachid Abilkassem
Pena-Shokeir Syndrome (PSS) is a rare autosomal recessive disorder characterized by dysmorphic features, camptodactyly, arthrogryposis, intrauterine growth restriction, polyhydramnios, and pulmonary hypoplasia. Two types of this syndrome have been defined, differentiated by distinct clinical and genetic features. PSS is a potentially life-threatening condition, with most cases expected to be diagnosed prenatally via ultrasound. Genetic counseling is crucial to inform parents about recurrence risks and management strategies for future pregnancies. We report a case of PSS in a dichorionic diamniotic (DCDA) twin pregnancy. Despite normal prenatal ultrasounds, 1 twin was diagnosed postnatally with severe craniofacial anomalies, limb deformities, and pulmonary complications, consistent with PSS. In contrast, the second twin exhibited normal growth and development, with no anomalies identified. To the best of our knowledge, this is the third reported case of PSS in a twin pregnancy and the second involving a normal co-twin. This case aims to contribute to the existing literature by detailing the unique dysmorphic and clinical findings associated with PSS and emphasizing the diagnostic challenges in twin pregnancies.
{"title":"The Pena-Shokeir Syndrome in a Twin Pregnancy: A Rare Case Report.","authors":"Souhaila El Gazzane, Salahiddine Saghir, Mehdi Bahous, Mohamed Sellouti, Anass Ayad, Rachid Abilkassem","doi":"10.1177/11795476251329986","DOIUrl":"10.1177/11795476251329986","url":null,"abstract":"<p><p>Pena-Shokeir Syndrome (PSS) is a rare autosomal recessive disorder characterized by dysmorphic features, camptodactyly, arthrogryposis, intrauterine growth restriction, polyhydramnios, and pulmonary hypoplasia. Two types of this syndrome have been defined, differentiated by distinct clinical and genetic features. PSS is a potentially life-threatening condition, with most cases expected to be diagnosed prenatally via ultrasound. Genetic counseling is crucial to inform parents about recurrence risks and management strategies for future pregnancies. We report a case of PSS in a dichorionic diamniotic (DCDA) twin pregnancy. Despite normal prenatal ultrasounds, 1 twin was diagnosed postnatally with severe craniofacial anomalies, limb deformities, and pulmonary complications, consistent with PSS. In contrast, the second twin exhibited normal growth and development, with no anomalies identified. To the best of our knowledge, this is the third reported case of PSS in a twin pregnancy and the second involving a normal co-twin. This case aims to contribute to the existing literature by detailing the unique dysmorphic and clinical findings associated with PSS and emphasizing the diagnostic challenges in twin pregnancies.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251329986"},"PeriodicalIF":0.8,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-19eCollection Date: 2025-01-01DOI: 10.1177/11795476251326462
Lina Al-Soufi, Aya Marashli, Mohammad Adi, Zuheir Al-Shehabi
Introduction: Scabies is a parasitic skin condition, with crusted scabies (CS) being a severe and highly contagious variant characterized by thickened skin lesions and a high mite count. CS is typically associated with immunocompromised individuals but can also develop in those suffering from malnutrition, as malnutrition weakens immune responses and impairs skin integrity.
Case presentation: We report a case of CS in a 50-year-old malnourished male with no history of scabies or systemic disease, recently incarcerated. He presented with widespread itching, hyperkeratotic papules on the palms and soles, and secondary impetigo. The patient showed signs of malnutrition, with a BMI of 15.6 kg/m² and muscle wasting. Sarcoptes scabiei mites, eggs, and scybala were identified microscopically. The case was classified as Grade 3 CS. Treatment included two doses of ivermectin (8 mg) one week apart, 10% sulfur ointment, and benzyl benzoate soap. Follow-up was incomplete, highlighting challenges in managing socially vulnerable patients.
Discussion: This case emphasizes the importance of early recognition, accurate diagnosis, and effective treatment of CS, especially in settings with poor sanitation and overcrowding. The patient's malnutrition likely contributed to the severity of the condition, as compromised immunity can facilitate mite proliferation.
Conclusion: A holistic approach addressing malnutrition, sanitation, and patient education is crucial in managing CS in resource-limited settings.
{"title":"Crusted Scabies in a Malnourished Patient: A Rare Case Report.","authors":"Lina Al-Soufi, Aya Marashli, Mohammad Adi, Zuheir Al-Shehabi","doi":"10.1177/11795476251326462","DOIUrl":"10.1177/11795476251326462","url":null,"abstract":"<p><strong>Introduction: </strong>Scabies is a parasitic skin condition, with crusted scabies (CS) being a severe and highly contagious variant characterized by thickened skin lesions and a high mite count. CS is typically associated with immunocompromised individuals but can also develop in those suffering from malnutrition, as malnutrition weakens immune responses and impairs skin integrity.</p><p><strong>Case presentation: </strong>We report a case of CS in a 50-year-old malnourished male with no history of scabies or systemic disease, recently incarcerated. He presented with widespread itching, hyperkeratotic papules on the palms and soles, and secondary impetigo. The patient showed signs of malnutrition, with a BMI of 15.6 kg/m² and muscle wasting. Sarcoptes scabiei mites, eggs, and scybala were identified microscopically. The case was classified as Grade 3 CS. Treatment included two doses of ivermectin (8 mg) one week apart, 10% sulfur ointment, and benzyl benzoate soap. Follow-up was incomplete, highlighting challenges in managing socially vulnerable patients.</p><p><strong>Discussion: </strong>This case emphasizes the importance of early recognition, accurate diagnosis, and effective treatment of CS, especially in settings with poor sanitation and overcrowding. The patient's malnutrition likely contributed to the severity of the condition, as compromised immunity can facilitate mite proliferation.</p><p><strong>Conclusion: </strong>A holistic approach addressing malnutrition, sanitation, and patient education is crucial in managing CS in resource-limited settings.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251326462"},"PeriodicalIF":0.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: During the COVID-19 pandemic, incidence of brain abscesses is difficult to assess. Numerous studies reported benign and severe post SARS-CoV-2 vaccine side effects, including rare cases of brain abscesses associated with COVID-19 or Anti-SARS-CoV-2 vaccines. Here in, we report what we believe to be, up to date, the fourth known case in the medical literature of a streptococcus salivarius brain abscess, the first intra parenchymatous or supra-tentorial streptococcus salivarius brain abscess and also the first that occurs following an anti-SARS-CoV-2 vaccine.
Case presentation: We describe the case of a north african 63-year-old man with an unremarkable medical history except for recent anti-SARS-CoV-2 vaccinations. Following the administration of a third anti-SARS-CoV-2 booster vaccine, the patient developed neurological symptoms, including left hemiparesis, facial palsy, vertigo, and balance issues. Imaging studies revealed a right temporo-parietal lesion consistent with intracranial suppuration. Stereotaxic cerebral biopsy confirmed the presence of purulent content, indicating a brain abscess caused by multi-sensitive streptococcus salivarius.
Conclusion: Sepsis-induced immunodepression appears to be a consequence of severe inflammatory state, as it dysregulates leukocytes population and results in serious infections. A plausible hypothesis is that a previous stress such as anti-SARS-CoV-2 vaccination could lead to the development of a streptococcus salivarius septicemia. In light of the available evidence and research findings, no definitive conclusion can be drawn regarding any potential link between anti-SARS-CoV-2 vaccines and the physiopathology of sepsis-induced immunodepression.
{"title":"An Exceptional Case of a Supra-tentorial Streptococcus Salivarius Brain Abscess-A Case Report.","authors":"Abderrahim Bourial, Wahib Lahlou, Mounir Rghioui, Sidi Mamoun Louraoui, Abdessamad El Azhari, Fadila Guessous","doi":"10.1177/11795476251325803","DOIUrl":"10.1177/11795476251325803","url":null,"abstract":"<p><strong>Introduction: </strong>During the COVID-19 pandemic, incidence of brain abscesses is difficult to assess. Numerous studies reported benign and severe post SARS-CoV-2 vaccine side effects, including rare cases of brain abscesses associated with COVID-19 or Anti-SARS-CoV-2 vaccines. Here in, we report what we believe to be, up to date, the fourth known case in the medical literature of a <i>streptococcus salivarius</i> brain abscess, the first intra parenchymatous or supra-tentorial <i>streptococcus salivarius</i> brain abscess and also the first that occurs following an anti-SARS-CoV-2 vaccine.</p><p><strong>Case presentation: </strong>We describe the case of a north african 63-year-old man with an unremarkable medical history except for recent anti-SARS-CoV-2 vaccinations. Following the administration of a third anti-SARS-CoV-2 booster vaccine, the patient developed neurological symptoms, including left hemiparesis, facial palsy, vertigo, and balance issues. Imaging studies revealed a right temporo-parietal lesion consistent with intracranial suppuration. Stereotaxic cerebral biopsy confirmed the presence of purulent content, indicating a brain abscess caused by multi-sensitive <i>streptococcus salivarius</i>.</p><p><strong>Conclusion: </strong>Sepsis-induced immunodepression appears to be a consequence of severe inflammatory state, as it dysregulates leukocytes population and results in serious infections. A plausible hypothesis is that a previous stress such as anti-SARS-CoV-2 vaccination could lead to the development of a <i>streptococcus salivarius</i> septicemia. In light of the available evidence and research findings, no definitive conclusion can be drawn regarding any potential link between anti-SARS-CoV-2 vaccines and the physiopathology of sepsis-induced immunodepression.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251325803"},"PeriodicalIF":0.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11915240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biliary tract carcinomas (BTC) are malignant epithelial neoplasms subdivided anatomically into: gallbladder carcinomas and carcinomas of the bile duct or cholangiocarcinomas (CCA); including intrahepatic, hilar/perihilar, and distal CCA. Adenocarcinoma accounts for the most common BTC (over 90% of all carcinomas), while other histological subtypes represent rarer forms including: poorly cohesive/signet ring cell carcinoma, which has a greater malignant potential than conventional BTC and a poorer prognosis. Only few cases have been reported in the literature to date. The positive diagnosis remains on histology. Herein, we describe a new case of poorly cohesive carcinoma of bile duct extending to the gallbladder in a 60 years old women with a fatal outcome, to raise awareness of this rare entity and to provide data for larger series.
{"title":"Poorly Cohesive Carcinoma of Common Bile Duct: A Rare Histological Type of Cholangiocarcinoma.","authors":"Derqaoui Sabrine, Hamid Mohamed, Ahmed Jahid, Kaoutar Znati, Fouad Zouaidia, Settaf Abdellatif, Bernoussi Zakiya","doi":"10.1177/11795476251324361","DOIUrl":"10.1177/11795476251324361","url":null,"abstract":"<p><p>Biliary tract carcinomas (BTC) are malignant epithelial neoplasms subdivided anatomically into: gallbladder carcinomas and carcinomas of the bile duct or cholangiocarcinomas (CCA); including intrahepatic, hilar/perihilar, and distal CCA. Adenocarcinoma accounts for the most common BTC (over 90% of all carcinomas), while other histological subtypes represent rarer forms including: poorly cohesive/signet ring cell carcinoma, which has a greater malignant potential than conventional BTC and a poorer prognosis. Only few cases have been reported in the literature to date. The positive diagnosis remains on histology. Herein, we describe a new case of poorly cohesive carcinoma of bile duct extending to the gallbladder in a 60 years old women with a fatal outcome, to raise awareness of this rare entity and to provide data for larger series.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251324361"},"PeriodicalIF":0.8,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11912167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-12eCollection Date: 2025-01-01DOI: 10.1177/11795476251322433
Kinga Kowalik, Małgorzata Wojciechowska, Karol Momot, Izabela Poprawa, Maciej Dąbrowski, Mariusz Kruk, Maciej Zarębiński
In this paper, we present 2 patients with ST-elevation myocardial infarction in the course of Spontaneous Coronary Artery Dissection. The first patient, a female admitted with STEMI, was diagnosed with SCAD with intravascular imaging and treated with IVUS-guided PCI. In the second patient, a young male hospitalized due to angina and STEMI, SCAD was not identified initially, and the patient was treated conservatively. Based on these cases, we show different faces of the same disease that imply different diagnostics and management strategies. We draw attention to the fact that the disease affects not only young women without atherosclerotic risk factors and that it is not always possible to avoid generally not recommended invasive treatment and anticoagulant therapy. The paper also discusses the disease's pathophysiology and its diagnosis methods.
{"title":"Spontaneous Coronary Artery Dissection-Different Faces of the Same Disease.","authors":"Kinga Kowalik, Małgorzata Wojciechowska, Karol Momot, Izabela Poprawa, Maciej Dąbrowski, Mariusz Kruk, Maciej Zarębiński","doi":"10.1177/11795476251322433","DOIUrl":"10.1177/11795476251322433","url":null,"abstract":"<p><p>In this paper, we present 2 patients with ST-elevation myocardial infarction in the course of Spontaneous Coronary Artery Dissection. The first patient, a female admitted with STEMI, was diagnosed with SCAD with intravascular imaging and treated with IVUS-guided PCI. In the second patient, a young male hospitalized due to angina and STEMI, SCAD was not identified initially, and the patient was treated conservatively. Based on these cases, we show different faces of the same disease that imply different diagnostics and management strategies. We draw attention to the fact that the disease affects not only young women without atherosclerotic risk factors and that it is not always possible to avoid generally not recommended invasive treatment and anticoagulant therapy. The paper also discusses the disease's pathophysiology and its diagnosis methods.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251322433"},"PeriodicalIF":0.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-26eCollection Date: 2025-01-01DOI: 10.1177/11795476251323164
Hasan Arafat, Zahraa Mm Zeer, Almotazbellah Mm Zeer, Mahmoud Noman, Hamza A Abdul-Hafez, Ahmad G Hammouri, Amer Zughayyer
Introduction: Fever of unknown origin is one of the challenging medical conditions with a wide differential diagnosis.
Case presentation: We present a case of 16-year-old patient with Ewing sarcoma diagnosed with neoplastic fever.
Discussion: Neoplastic fever, which is caused by the tumor itself, is diagnosed when all other causes of fever have been ruled out. It occurs more frequently in hepatic, renal, and hematological cancers. After history and physical examination, a thorough individualized diagnostic approach is required. Removing the underlying cause of fever when feasible and symptomatic relief with NSAIDS are the primary therapeutic approaches.
Conclusion: Fever is common in patients with cancer and it can be due to infectious and non-infectious causes. After excluding all potential causes, neoplastic fever is diagnosed.
{"title":"Ewing Sarcoma Presenting as Fever of Unknown Origin (FUO) in Children: A Case Report and Brief Review of the Literature.","authors":"Hasan Arafat, Zahraa Mm Zeer, Almotazbellah Mm Zeer, Mahmoud Noman, Hamza A Abdul-Hafez, Ahmad G Hammouri, Amer Zughayyer","doi":"10.1177/11795476251323164","DOIUrl":"10.1177/11795476251323164","url":null,"abstract":"<p><strong>Introduction: </strong>Fever of unknown origin is one of the challenging medical conditions with a wide differential diagnosis.</p><p><strong>Case presentation: </strong>We present a case of 16-year-old patient with Ewing sarcoma diagnosed with neoplastic fever.</p><p><strong>Discussion: </strong>Neoplastic fever, which is caused by the tumor itself, is diagnosed when all other causes of fever have been ruled out. It occurs more frequently in hepatic, renal, and hematological cancers. After history and physical examination, a thorough individualized diagnostic approach is required. Removing the underlying cause of fever when feasible and symptomatic relief with NSAIDS are the primary therapeutic approaches.</p><p><strong>Conclusion: </strong>Fever is common in patients with cancer and it can be due to infectious and non-infectious causes. After excluding all potential causes, neoplastic fever is diagnosed.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251323164"},"PeriodicalIF":0.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11866381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tuberous sclerosis complex (TSC) is a rare multisystemic neurocutaneous syndrome with a wide spectrum of clinical manifestations. We present a case of a 14-year-old adolescent female who presented with a history of facial angiofibromas since the age of 8 months. Physical examination was remarkable for multiple angiofibromas on the face, and other multiple cutaneous manifestations of TSC. MRI of the head, and abdomen revealed cortical tubers, multiple bilateral periventricular and subependymal nodular lesions, calcifications, and bilateral kidney enlargement with multiple bilateral renal angiomyolipomas of varying sizes in a background of bilateral polycystic kidneys, MRI of the chest was unremarkable. A diagnosis of TSC was made using the clinical diagnostic criteria which consist of major and minor features. A diagnosis using genetic studies could not be made due to a lack of resources. Management was multidisciplinary and regular monitoring every 6 months will be required to monitor disease progression and manage complications as they arise. This case illustrates the multidisciplinary approach needed to address the diverse clinical manifestations of TSC and the diagnostic challenges, treatment limitations, and psychological impact of TSC in low-resource settings like Zambia where access to advanced therapies is limited.
{"title":"Diagnosis and Management of Tuberous Sclerosis Complex in a Resource-Limited Setting-A Case Report of a 14-Year-Old Female Zambian Adolescent.","authors":"Mwamba Lienda, Meek Mwila, Chilala Sichula, Chishiba Kabengele, Moses Akombwa, Christina Zulu, Chihena Hansini Banda, Hellen M'hango","doi":"10.1177/11795476251321268","DOIUrl":"10.1177/11795476251321268","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is a rare multisystemic neurocutaneous syndrome with a wide spectrum of clinical manifestations. We present a case of a 14-year-old adolescent female who presented with a history of facial angiofibromas since the age of 8 months. Physical examination was remarkable for multiple angiofibromas on the face, and other multiple cutaneous manifestations of TSC. MRI of the head, and abdomen revealed cortical tubers, multiple bilateral periventricular and subependymal nodular lesions, calcifications, and bilateral kidney enlargement with multiple bilateral renal angiomyolipomas of varying sizes in a background of bilateral polycystic kidneys, MRI of the chest was unremarkable. A diagnosis of TSC was made using the clinical diagnostic criteria which consist of major and minor features. A diagnosis using genetic studies could not be made due to a lack of resources. Management was multidisciplinary and regular monitoring every 6 months will be required to monitor disease progression and manage complications as they arise. This case illustrates the multidisciplinary approach needed to address the diverse clinical manifestations of TSC and the diagnostic challenges, treatment limitations, and psychological impact of TSC in low-resource settings like Zambia where access to advanced therapies is limited.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251321268"},"PeriodicalIF":0.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11837062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Chronic exfoliative cheilitis is an inflammatory condition of the lips that involves exfoliation of the superficial layers of the lip with continuous peeling, ulceration, and exfoliation. Chronic exfoliative cheilitis can lead to social and psychosocial problems.
Case presentation: A 73-year-old diabetic male presented with a lip lesion showing continuous ulceration, crusting, and peeling of the lower lip. It was a spontaneous complaint that had its onset 6 months ago and has constantly evolved. The medical history revealed controlled diabetes mellitus while the social and family histories showed no marked findings. After a careful history, clinical examination, and laboratory investigations with the exclusion of the possible etiologic factors of cheilitis, the patient was diagnosed with chronic exfoliative cheilitis with unknown etiology. Then, the patient was prescribed topical steroids, and he was advised for continuous follow-up visits.
Conclusion: Diagnosing chronic cheilitis is challenging and requires careful history, clinical examination, and laboratory investigation, with continuous follow-up to improve the patient's quality of life. Further research is needed to better understand and treat these cases.
{"title":"A Rare Presentation of Chronic Exfoliative Cheilitis: Case Report.","authors":"Abdelrahman Eltoureini, Hamad Alharbi, Wafaa Saleh","doi":"10.1177/11795476251319981","DOIUrl":"10.1177/11795476251319981","url":null,"abstract":"<p><strong>Background: </strong>Chronic exfoliative cheilitis is an inflammatory condition of the lips that involves exfoliation of the superficial layers of the lip with continuous peeling, ulceration, and exfoliation. Chronic exfoliative cheilitis can lead to social and psychosocial problems.</p><p><strong>Case presentation: </strong>A 73-year-old diabetic male presented with a lip lesion showing continuous ulceration, crusting, and peeling of the lower lip. It was a spontaneous complaint that had its onset 6 months ago and has constantly evolved. The medical history revealed controlled diabetes mellitus while the social and family histories showed no marked findings. After a careful history, clinical examination, and laboratory investigations with the exclusion of the possible etiologic factors of cheilitis, the patient was diagnosed with chronic exfoliative cheilitis with unknown etiology. Then, the patient was prescribed topical steroids, and he was advised for continuous follow-up visits.</p><p><strong>Conclusion: </strong>Diagnosing chronic cheilitis is challenging and requires careful history, clinical examination, and laboratory investigation, with continuous follow-up to improve the patient's quality of life. Further research is needed to better understand and treat these cases.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251319981"},"PeriodicalIF":0.8,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11822812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-13eCollection Date: 2025-01-01DOI: 10.1177/11795476251320006
Mohammad Hazique, Arihant Surana, Aashna Mehta, Helen Huang, Surour Alneyadi, Kavita Shah, Ajeet Singh, Amit Varma, Mahendra Pratap Singh, Sanjit Sah, Amogh Verma
Vitamin D deficiency is a significant public health concern that affects bone health and muscle function in children, especially in developing countries. The COVID-19 pandemic has intensified this issue because lockdowns have reduced sunlight exposure. We report a rare case of a 13-year-old Indian boy who developed severe proximal myopathy induced by vitamin D deficiency during the pandemic. The patient presented with generalized body aches, progressive lower limb weakness, difficulty walking, waddling gait, and a positive Gower's sign. Laboratory tests revealed severe hypovitaminosis D (25[OH]D level, 3.8 ng/ml), hypocalcemia, hypophosphatemia, elevated parathyroid hormone, and elevated alkaline phosphatase levels. Electromyography and nerve conduction study results were normal. The patient was diagnosed with vitamin D deficiency-induced proximal myopathy and osteomalacia, likely due to reduced sunlight exposure, inadequate dietary intake, and obesity. The treatment involved high-dose vitamin D supplementation, oral calcium, lifestyle modifications, and a structured physiotherapy program focusing on resistance training and functional mobility exercises. Despite biochemical normalization after 2 months, significant symptomatic improvement was achieved only after intensifying physiotherapy. By 7 months, the patient had fully recovered muscle strength, achieved normal gait, and maintained normal follow-up laboratory values. This case emphasizes the importance of considering vitamin D deficiency in children with muscle weakness during periods of limited sunlight exposure, and highlights the need for a multidisciplinary approach for effective management and full functional recovery.
维生素 D 缺乏症是一个重大的公共卫生问题,它会影响儿童的骨骼健康和肌肉功能,尤其是在发展中国家。COVID-19 大流行加剧了这一问题,因为封锁减少了阳光照射。我们报告了一例罕见病例:一名 13 岁的印度男孩在大流行期间因缺乏维生素 D 而引发严重的近端肌病。患者出现全身酸痛、进行性下肢无力、行走困难、步态蹒跚和高尔氏征阳性。实验室检查发现患者存在严重的维生素 D 缺乏症(25[OH]D 水平为 3.8 ng/ml)、低钙血症、低磷血症、甲状旁腺激素升高以及碱性磷酸酶水平升高。肌电图和神经传导检查结果正常。患者被诊断为维生素D缺乏引起的近端肌病和骨软化症,这可能是由于日照减少、饮食摄入不足和肥胖造成的。治疗包括补充大剂量维生素 D、口服钙剂、改变生活方式,以及实施以阻力训练和功能性活动锻炼为主的结构化理疗计划。尽管 2 个月后生化指标恢复正常,但只有在加强物理治疗后症状才得到明显改善。7 个月后,患者的肌力完全恢复,步态正常,随访实验室值也保持正常。本病例强调了在日光照射受限期间考虑肌无力患儿维生素 D 缺乏症的重要性,并强调了采取多学科方法进行有效管理和全面恢复功能的必要性。
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